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Article

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.

Human mutation - 1 Oct 2004

Krüger Stefan, Bier Andrea, Plaschke Jens, Höhl Ruth, Aust Daniela E, Kreuz Friedmar R, Pistorius Steffen R, Saeger Hans D, Rothhammer Veit, Al-Taie Oliver, Schackert Hans K

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the most common hereditary cancer-susceptibility syndromes. Germline mutations in mismatch repair genes are associated with the clinical phenotype of HNPCC. We report ten novel germline mutations, three in MSH2 and seven in MLH1. All but one mutation have been found in families fulfilling criteria of the Bethesda guidelines; four of them additionally...

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Source

Identifiers

PMID: 15365996
DOI: 10.1002/humu.9278

Genes

MLH1
MSH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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